Редкие (орфанные) заболевания
Полная база 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, препаратами и исследованиями.
17q11.2 microduplication syndrome
Autosomal dominant
Infancy, Neonatal
17q12 microdeletion syndrome
Not applicable
Antenatal, Infancy, Neonatal
17q12 microduplication syndrome
Antenatal, Infancy, Neonatal
17q21.31 microduplication syndrome
Not applicable, Unknown
Infancy, Neonatal
17q23.1q23.2 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
17q24.2 microdeletion syndrome
Not applicable
Antenatal, Neonatal
19p13.12 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
19p13.13 microdeletion syndrome
Unknown
Infancy, Neonatal
19p13.3 microduplication syndrome
Unknown
Antenatal, Neonatal
19q13.11 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
1p21.3 microdeletion syndrome
Unknown
No data available
1p31p32 microdeletion syndrome
Unknown
Neonatal
1p35.2 microdeletion syndrome
Not applicable
Neonatal
1p36 deletion syndrome
Multigenic/multifactorial, Not applicable
Antenatal, Neonatal
1q21.1 microdeletion syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
1q21.1 microduplication syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
1q41q42 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
1q44 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
20p12.3 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
20p13 microdeletion syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
20q11.2 microdeletion syndrome
Not applicable
Antenatal, Neonatal
20q11.2 microduplication syndrome
Infancy, Neonatal
20q13.33 microdeletion syndrome
Not applicable
Neonatal
21q deletion syndrome
Antenatal, Neonatal